A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome

被引:7
作者
Cai, J [1 ]
Shoo, BA [1 ]
Sorauf, T [1 ]
Jabs, EW [1 ]
机构
[1] Johns Hopkins Univ Hosp, CMSC 1004, Baltimore, MD 21287 USA
关键词
D O I
10.1034/j.1399-0004.2003.00098.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:79 / 82
页数:4
相关论文
共 18 条
[1]   The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome [J].
Bourgeois, P ;
Bolcato-Bellemin, AL ;
Danse, JM ;
Bloch-Zupan, A ;
Yoshiba, K ;
Stoetzel, C ;
Perrin-Schmitt, F .
HUMAN MOLECULAR GENETICS, 1998, 7 (06) :945-957
[2]   A FAMILY STUDY OF CRANIOSYNOSTOSIS, WITH PROBABLE RECOGNITION OF A DISTINCT SYNDROME [J].
CARTER, CO ;
TILL, K ;
FRASER, V ;
COFFEY, R .
JOURNAL OF MEDICAL GENETICS, 1982, 19 (04) :280-285
[3]  
Chotzen F, 1932, Mschr Kinderheilk, V55, P97
[4]   Genetic analysis of patients with the Saethre-Chotzen phenotype [J].
Chun, K ;
Teebi, AS ;
Jung, JH ;
Kennedy, S ;
Laframboise, R ;
Meschino, WS ;
Nakabayashi, K ;
Scherer, SW ;
Ray, PN ;
Teshima, I .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 110 (02) :136-143
[5]  
COHEN MM, 2000, CRANIOSYNOSTOSIS DIA, P433
[6]  
ElGhouzzi V, 1997, NAT GENET, V15, P42
[7]  
Gorlin RJ, 2001, SYNDROMES HEAD NECK, p[664, 684]
[8]  
Gripp KW, 2000, HUM MUTAT, V15, P150, DOI 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO
[9]  
2-D
[10]   Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome [J].
Howard, TD ;
Paznekas, WA ;
Green, ED ;
Chiang, LC ;
Ma, N ;
DeLuna, RIO ;
Delgado, CG ;
GonzalezRamos, M ;
Kline, AD ;
Jabs, EW .
NATURE GENETICS, 1997, 15 (01) :36-41